인체 흉선으로부터 Wilms
Isolation and Partial Characterization of a Human Thymus cDNA Encoding Wilms
소속 상세정보
조원경/W.K. Cho
진승원/황미열/손우익/김규태/S.W. Jin/M.Y. Hwang/Uik Sohn/K.T. Kim
KMID : 0357119950170040299
Abstract
Human thymus 조직으로부터 cDNA library를 제작하여 random sequencing을 수행하였
다. 이 중에서 clone JTH21의 open reading frame을 분석 한 결과 133개의 아미노산을
code 할 수 있는 465 nucleotide로 되어 있으며, full-length sequence는 아니지만
chromosome 11번이 delete 된 Wilms' tumor의 micro cell hybrid cell에서 분리된 QM
gene과 거의 동일하였다. QM gene은 Wilms' tumor gene으로 보고 있는 WTI, WT2 및
WT3와는 다른 sequence를 갖고 있으며, chromosome llp13이 delete된 Wilms' tumor cell
에서 down expression되나 thymus를 비롯한 여러 종류의 정상 조직에서도 발현되는 것으
로 보아 QM이 tumor suppression 기능이 있는 house keeping gene으로 추측된다.
#초록#
Wilms' tumor, known as a pediatric nephroblastoma, is an embryonal malignancy of
the kidney. The tumor is thought to arise from metanephric plasma components of
nephronl. and to arise from loss of a tumor suppressor gene. The complex syndrome
known as WAGR (Wilms' tumor, Aniridia, Genitourinary abnormalities and Mental
retardation) was found to be associated with a deletion of chromosome 11p13. This
finding led to the isolation of a candidate Wilms'tumor gene (WT1), encoding a
transcription factor containing zinc finger motif. WT1 is not only expressed in most
Wilms' tumors but also in a developing nephrons and genitourinary development. But
the candidate gene is not expressed in those with a homozygous deletion of llp13.
Germline mutations in WT1 gene have been observed in patients with Drash-syndrome.
A second Wilms'tumor candidate gene (WT2) has also been identified and was found to
localize on the chromosome 11p15. A third candidate gene (WT3) is involved in rare
familial forms but is not localized on either llp13 or llp15. Recently, a cDNA encoding
Wilms' tumor-related protein called QM was isolated Srom a llp13-deleted micro cell
hybrid cell line of Wikns'tumor. Austruy et al (1993) have also reported partial
sequences of two different kidney cDNAS downexpressed in Wilms' tumor by a
subtractive hybridization. Here we report partial characterization of a cDNA encoding
QM protein from normal thymus tissue.
키워드
Wilms'tumor-related protein; Human thymus.;
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